The Gastrointestinal System | Approach to the patient with complaints



The gastrointestinal system includes the alimentary tract from mouth to anus, the liver, hepatobiliary structures including the gallbladder, pancreas and the biliary and pancreatic ductal systems. Effective clinical evaluation of gastrointestinal system relies upon recognizing the pattern of symptoms and signs. This is made more challenging because these occupy a small abdominal cavity, shared with parts of genitourinary system and vascular tree, with symptoms conveyed in unmyelinated afferent C fibres located on the walls of hollow viscera and capsules of solid organs to a relatively small area on the sensory cortex.



Almost half of gastrointestinal problems are not associated with physical signs or positive test results. Hence, the diagnosis and management is often based entirely on the inferences drawn from a patient’s symptoms. In addition, as sets of symptoms are common to both ‘medical’ and ‘surgical’ conditions, identifying subtle variations in these patterns is critical for appropriate and timely clinical management.

When taking the history, you must ask about the following:

  • accurate description of the symptom(s)
  • time of onset
  • occurrence and reoccurrence
  • location and radiation
  • aggravating and relieving factors
  • relationship to other symptoms
  • any previous abdominal or pelvic surgery
  • history of travel and laxative misuse if there is diarrhoea
  • presence of other systemic illnesses such as diabetes or cardiovascular disease that might affect the digestive system or share similar risk factors
  • history of alcohol excess, peptic ulcer or liver disease
  • family history of inflammatory bowel disease, coeliac disease, liver disease or bowel cancer
  • risk factors:
    • smoking and alcohol consumption may impact on diagnosis and management, particularly of inflammatory bowel disease and chronic liver disease
    • alcohol excess, non-steroidal anti-inflammatory drugs (NSAIDs), antiplatelet agents and anticoagulants increase the risk of gastrointestinal haemorrhage
    • alcohol excess, intravenous drug misuse, risk behaviour and metabolic syndrome increase the risk of chronic liver disease.



Symptoms suggestive of systemic inflammatory response, anaemia and weight loss generally indicate organic diseases and not functional disorders.



Difficulty in swallowing is often described as food ‘sticking’ or ‘not going down’. The sensation of a lump in the throat or retrosternal area (globus) is not true dysphagia, rather a perceived inability to swallow unrelated to eating, often associated with psychiatric comorbidities especially in females – when the term ‘globus hystericus’ is used.

Dysphagia is a ‘red flag’ symptom, as many patients with this symptom will have clinically significant pathology.

  • In mechanical obstruction, solids ‘stick’ more than liquids.
  • In neuromuscular causes, liquids ‘stick’ more than solids.

The history and associated symptoms may give a clue to the aetiology:

  • weight loss and worsening dysphagia – oesophageal cancer is likely
  • pain on swallowing (odynophagia) that is sharp and burning suggests mucosal inflammation (oesophagitis, infections or radiation), but a crampy or squeezing pain suggests a neuromuscular cause
  • difficulty in initiating swallowing is suggestive of oropharyngeal dysphagia
  • regurgitating old food is suggestive of pharyngeal pouch (Zenker’s diverticulum)
  • cough associated with swallowing suggests neuromuscular abnormalities
  • acute onset is characteristic of bolus obstruction. 

Dyspepsia or reflux 

Heartburn (pyrosis) is a retrosternal burning sensation commonly experienced by up to 45 per cent of the population in the past 12 months. This characteristically occurs, or worsens, when bending over, straining or lying down, especially after a meal. Heartburn can often be associated with chest pain secondary to oesophageal spasm, which may be relieved by nitroglycerin, a smooth muscle relaxant. Unlike angina, it is unrelated to exertion and often occurs at rest. Its presence implies gastro-oesophageal reflux disease (GORD) and acid regurgitation.



The word heartburn is poorly understood by patients so you may need to ask about ‘a burning feeling rising from the stomach or lower chest up toward the neck’.


Waterbrash, the spontaneous flooding of the mouth with salivary secretions, accompanies heartburn. Rumination, in which meals are routinely regurgitated and swallowed, usually has no longterm consequences. Regurgitation is a passive process of retrograde flow of oesophageal contents into the mouth. Acid regurgitation is a cardinal symptom of GORD;somepatientsmayhave‘bolusreflux’,which responds poorly to treatment with proton pump inhibitors.

Dyspepsia or ‘indigestion’ includes a group of symptoms believed to originate in the foregut. The main symptom is usually upper abdominal pain or discomfort, often associated with heartburn, bloating, belching, early satiety and nausea or vomiting. It is often caused by peptic ulcer, inflammation in the stomach and/or duodenum secondary to Helicobacter pylori infection or use of NSAIDs, presence of GORD and even functional bowel disorders. No symptom pattern reliably distinguishes the causes of dyspepsia, nor are there any symptoms that distinguish duodenal from gastric ulcers.

Nausea and vomiting

Nausea is an unpleasant, queasy feeling in the throat or stomach that usually precedes vomiting. Vomiting, in contrast, is a highly specific physical event that results in the rapid, forceful evacuation of gastric contents in retrograde fashion from the stomach up to and out of the mouth. It may be accompanied by tachycardia, hypersalivation, waterbrash and excessive perspiration. Vomiting must be distinguished from rumination and regurgitation. Nausea and vomiting are considered chronic if they last for more than 1 month.

Acute nausea and vomiting is usually due to:

  • gastrointestinal infection
  • ingestion of toxins (food poisoning)
  • drugs
  • head trauma
  • abdominal visceral pain
  • pregnancy.

Chronic nausea and vomiting usually suggests:

  • motility disturbance
  • endocrine or metabolic disorder
  • intracranial pathology such as a space-occupying lesion
  • partial mechanical obstruction of the gastrointestinal tract.

Vomiting during or soon after a meal is often functional but can occur with pyloric ulcers. Stale food in the vomitus 1–3 hours after a meal suggests gastric outlet,high small-bowel obstruction or gastroparesis. Feculent odour usually represents distal small-bowel or colonic obstruction, but can be due to gastrocolic fistulas, peritonitis with ileus, or bacterial overgrowth of the proximal small bowel/stomach.

Gastrointestinal bleeding

Gastrointestinal bleeding is a medical emergency requiring rapid evaluation and treatment. Distinguishing between upper gastrointestinal bleed (Box 9.1) and lower gastrointestinal bleed is important as their differential diagnoses and treatment differ.



  • Peptic ulcer (40–50 percent)
  • Gastroduodenal erosions (10 percent)
  • Oesophagitis (5–10 percent)
  • Mallory–Weiss tear (10 percent)
  • Varices (5–10 percent)
  • Vascular malformations (5 percent)
  • Malignancy (4–5 percent)
  • Unidentified (20 percent)


Haematemesis is the vomiting of either bright red blood or ‘coffee grounds’ material (blood altered by exposure to acid). It almost always denotes an upper gastrointestinal bleed proximal to the ligament of Treitz (at the end of the duodenum).

Melaena is the passage of blood gradually degraded to haematin or other haemachromes by bacteria to produce a black tarry offensive stool. It requires at least 50 mL of blood delivered into the upper gastrointestinal tract, although up to 100 mL may be clinically silent. The source of bleeding may be the upper gastrointestinal tract, distal small bowel or ascending colon.

Approximately 10 percent of all patients with rapid bleeding from an upper source present with haematochezia, the passage of bright red, maroon stool or clots per rectum, usually from a lower gastrointestinal bleed.

Occult bleeding, bleeding that is not apparent to the patient, usually results from small bleeds. It often presents with iron deficiency anaemia.

A non-bloody nasogastric aspirate suggests bleeding from a source outside the upper gastrointestinal tract, but is normal in up to 25 percent of cases with upper gastrointestinal bleeding. Even a bile-coloured aspirate, which signifies sampling of the duodenum, does not exclude an upper gastrointestinal source of bleeding.

Assessment of the severity of gastrointestinal bleeding

Scoring systems to risk stratify patients with upper gastrointestinal bleeding have been developed, based on a combination of clinical, laboratory and endoscopic features, two of which are the widely used Rockall scoring system, which predicts mortality, and the Glasgow–Blatchford scoring system, which predicts need for intervention and identification of patients with low risk bleeding.   


Acute upper gastrointestinal haemorrhage is a common, life-threatening medical emergency with an annual incidence of 50–150/100000 population and 10 per cent mortality in the UK.


Abdominal pain

Abdominal pain can be classified into three categories:

  • Visceral: a dull poorly localized pain in the abdominal wall experienced when noxious stimuli trigger visceral nociceptors. The site of pain corresponds roughly to the dermatomes appropriate to the abdominal organ from which the pain originates. It is often associated with autonomic features such as sweating, nausea, vomiting and pallor. Poor localization is believed to be due to visceral multisegmental innervation and, compared with skin, fewer visceral nerve endings.
  • Somato-parietal: This pain originates from parietal peritoneum so is better localized than visceral pain, for example pain at McBurney’s point in appendicitis.
  • Referred: This is pain felt remote to the diseased organ, believed to be due to convergence of visceral and somatic afferent neurones from different areas in the spinal cord.

Box 9.2 summarizes the localization of common causes of acute abdominal pain.


  • Right upper quadrant:
    • biliary obstruction
    • acute cholecystitis
    • hepatomegaly.
  • Left upper quadrant:
    • splenic infarct
    • acute focal pancreatitis
    • ischaemic colitis at watershed zone near splenic flexure.
  • Right lower quadrant:
    • appendicitis
    • terminal ileitis
    • Crohn’s disease 
    • typhlitis.
  • Left lower quadrant:
    • diverticulitis
    • infectious colitis (amoebic, bacterial)
    • inflammatory bowel disease.
  • Either left or right lower quadrant:
    • tubo-ovarian disease in women
    • ectopic pregnancy
    • salpingitis
    • pyelonephritis
    • ureteric stone.
  • Central abdominal pain:
    • gastritis/peptic ulcer
    • small intestinal ischaemia (abdominal angina)
    • acute pancreatitis (often referred to the back)
    • gastroenteritis.
  • Diffuse:
    • peritonitis due to perforated viscus
    • inflammatory bowel disease with toxic megacolon
    • haemorrhagic pancreatitis
    • spontaneous bacterial peritonitis (in patients with ascites)
    • postoperative (after abdominal surgery).

It is important to ask about aggravating and relieving factors.

  • Classical biliary colic can be exacerbated by fatty foods and the pain of chronic mesenteric ischaemia is worse after a meal.
  • Associated symptoms such as fever, right upper quadrant pain and jaundice (Charcot’s triad) occur in 50–75 percent of patients with cholangitis.
  • Mesenteric ischaemia typically presents with pain after meals, and pain associated with duodenal ulcer wakes the patient up from sleep but is rarely present in the morning.
  • Associated symptoms such as fever, right upper quadrant pain and jaundice (Charcot’s triad) occur in 50–75 percent of patients with cholangitis.

The severity of abdominal pain can be underestimated in patients with diabetes or those who are immunocompromised and elderly or very young patients. Symptoms and signs of acute abdominal pain can change over minutes to hours and serial examination often can improve the diagnostic yield.

Change in bowel habit (diarrhoea and constipation)



Many patients use the term ‘diarrhoea’ when they experience increased stool fluidity. Stool frequency of three or more bowel movements per day and stool weight greater than 200 g is considered abnormal in Western countries, though patients with increased fibre intake may exceed this. Diarrhoea is (see Box 9.3):

  • acute: if it lasts less than 2 weeks (mostly due to infection)
  • persistent: if it lasts more than 2 but less than 4 weeks (usually an atypical presentation of acute diarrhoea)
  • chronic: if it has been present for more than 4 weeks.

Dysentery is the passage of bloody stools and is often associated with tenesmus or spasm of the anal sphincter associated with cramping and ineffective straining at stool. 



Acute infective diarrhoea:

  • watery diarrhoea:
    • enterotoxin associated: cholera toxin, heat labile enterotoxin of Escherichia coli, heat stable enterotoxin of E. coli, zonula occludes toxin, accessory cholera exterotoxin, etc.
    • enteroadhesive associated: aggregative, adherent E. coli
    • cytotoxin associated: enteropathogenic E. coli, Shiga-like toxin, etc.
    • viral diarrhoeas: rota, adeno, Norwalk, etc.
    • parasite associated: Giardia, Cryptosporidium, Isospora
    • unknown mechanism: anaerobes, Giardia.
  • dysentery
    • invasive bacteria: Shigella, Salmonella, Campylobacter
    • parasites: Entamoeba histolytica
  • mucoid diarrhoea: any of the pathogens that cause watery diarrhoea or dysentery
  • antibiotic-associated diarrhoea: Clostridium difficile
  • parenteral diarrhoea
  • travellers’ diarrhoea.

Persistent diarrhoea.

Chronic diarrhoea:

  • malabsorption syndromes:
    • secondary malabsorption syndromes
    • luminal factors
    • mucosal factors
    • interference with vascular and lymphatic transport
    • pancreatic and biliary deficiency
    • primary malabsorption syndrome: tropical sprue
  • inflammatory bowel diseases
  • diarrhoea of the immunocompromised
  • irritable bowel syndrome.



Constipation (Box 9.4) is a common complaint. It is associated with inactivity, low calorie intake, the number of medications being taken (independent of their side effects), low income, low education level, depression and physical and sexual abuse. Patients may interpret the term ‘constipation’ differently – a formal definition is given in Box 9.4.



At least 12 weeks, which need not be consecutive, in the preceding 12 months, of two or more of:

  • Straining during >1 in 4 defecations
  • Lumpy or hard stools in >1 in 4 defecations
  • Sensation of incomplete evacuation in >1 in 4 defecations
  • Sensation of anorectal obstruction/blockade in >1 in 4 defecations
  • Manual manoeuvres to facilitate >1 in 4 defecations (e.g. digital evacuation, support of the pelvic floor); and/or <3 defecations/week.

Loose stools are not present, and there are insufficient criteria for IBS.


Acute constipation may be due to:

  • a sudden decrease in physical activity
  • a change in diet, particularly reducing fibre
  • use of medications (such as opiates, calcium channel blockers, anticholinergic drugs)
  • anal pain
  • in the over 40s – a colonic neoplasm.



Stool gazing:

  • The recto-sigmoid colon acts as a storage reservoir for stool. So with distal colonic inflammation or motility disturbances, frequent small bowel movements ensue.
  • Larger bowel movements are seen with lesions in the right colon and small bowel.
  • Presence of blood in the stool points towards either inflammatory bowel disease or malignancy, but in those with infective diarrhoea it is highly specific for infections with a invasive organism.
  • Presence of oil or food suggests either malabsorption or rapid intestinal transit.
  • Urgency and incontinence suggests a problem of rectal compliance or loss of tone in the sphincters.
  • Excessive flatus is often due to fermentation of carbohydrates by colonic bacteria either due to ingestion of poorly absorbed carbohydrates or malabsorption of carbohydrates by the small intestine.


A third of patients with chronic constipation have a functional disorder (some with a medical condition such as diabetes, Parkinson’s disease, multiple sclerosis or on medication contributing to constipation), a third have a defecatory disorder, one sixth have irritable bowel syndrome (IBS) and a quarter have combined IBS and outlet-type defecatory disorder or took a medication that could have caused or contributed to the condition.

Faecal impaction is accumulation of a large amount of hard stool in the rectum that cannot be passed because of its size and consistency.

Remember that history alone is not useful in distinguishing functional from organic causes of constipation. Constipation associated with abdominal pain and bloating is more likely to be due to mechanical obstruction (cancer, stricture or faecal impaction). However, IBS itself can present with abdominal pain and a subjective sensation of bloating. Acute onset of symptoms suggests the cause to be mechanical obstruction. Symptoms of pain, bloating, and incomplete defecation predominate in constipation associated with IBS.


‘Icterus’, a yellow discoloration of tissues, may be due to:

  • carotenoderma: excess consumption of carotene containing foods like carrots and leafy vegetables stains the palms, soles, forehead and nasolabial creases but spares the sclera
  • drugs: such as quinacrine and exposure to phenols
  • jaundice: characterized by yellow discoloration of the skin and mucous membranes due to abnormal increase in serum bilirubin >35 mmol/L (2 mg/dL). The sclera appear yellow first, as bilirubin has a high affinity to elastin in scleral tissue. Bilirubin gives urine a brown (‘tea’ or ‘cola’) colour.

Serum bilirubin level rises when the balance between production and clearance is altered and thus the evaluation of a jaundiced patient requires an understanding of bilirubin production, metabolism and excretion (Fig. 9.1). 


Figure 9.1 Overview of bilirubin metabolism and transport. OATP, organic anion transporter; UDP-GT, uridine diphosphoglucuronyl transferase; MRP2, multidrug resistance protein.



Problems in the pre-hepatic phase

Over-production of bilirubin

Inherited and acquired haemolytic disorders lead to excessive haem production and an unconjugated hyperbilirubinaemia (see Box 9.5), which is not excreted in the urine. Serum bilirubin rarely exceeds 86mmol/L (5mg/dL) so jaundice tends to be mild and recurrent and associated with symptoms of anaemia. Accelerated haemolysis, especially in inherited conditions, is associated with the formation of pigment gallstones which may obstruct the biliary tree and lead to conjugated hyperbilirubinaemia.



Haemolytic disorders:

  • inherited:
    • spherocytosis, elliptocytosis
    • glucose 6-phosphate dehydrogenase and pyruvate kinase deficiency
    • sickle cell disorder
  • acquired:
    • immune haemolysis
    • microangiopathic haemolytic anaemia
    • paroxysmal nocturnal haemoglobinuria.
  • Ineffective erythropoiesis:
    • vitamin B12 deficiency
    • folate deficiency
    • thalassaemia
    • severe iron deficiency anaemia.
  • Drugs
  • Inherited conditions;
    • Crigler–Najjar syndrome types I and II
    • Gilbert’s syndrome

Impaired uptake and conjugation

Drugs such as rifampicin cause unconjugated hyperbilirubinaemia by reducing hepatic uptake. Rare inherited syndromes such as Crigler– Najjar syndromes I and II and Gilbert’s syndrome are caused by dysfunction or absence of the enzyme uridine diphosphoglucoronyl transferase (UDP-GT), which mediates conjugation of the hydrophobic bilirubin to hydrophilic bilirubin monoglucoronide and diglucoronide conjugates that are suitable for excretion.

  • Crigler–Najjar I is very rare and is characterized by complete absence of the enzyme UDP-GT leading to neonatal kernicterus and death.
  • Crigler–Najjar II is more common and there is reduced activity of the enzyme and patients live to adulthood.
  • Gilbert’s syndrome is quite common and is due to reduced enzyme activity and manifests clinically as very mild jaundice especially in times of physiological stress such as periods of fasting or unrelated viral infections.

Problems in the hepatic phase

The UDP-GT activity is well maintained in both acute and chronic hepatocellular damage and even increased in cholestasis. Impaired secretion in association with parenchymal liver disease leads to ‘regurgitation’ of conjugated bilirubin from liver cells into the bloodstream. Deep yellow urine suggests a possibility of concentrated urine in dehydration rather than bilirubinuria. Some hepatocellular causes of jaundice are listed in Box 9.6.



Viral hepatitis:

  • hepatitis A, B, C and E
  • Epstein–Barr virus (EBV)
  • cytomegalovirus (CMV).


Autoimmune hepatitis. 


  • dose dependent, e.g. paracetamol overdose
  • idiosyncratic, e.g. isoniazid. 

Environmental toxins:

  • Bush tea
  • Kava Kava
  • mushrooms

Metabolic causes:

  • Wilson’s disease
  • Haemochromatosis
  • Non-alcoholic fatty liver disease (NAFLD)
  • α-1 antitrypsin deficiency.

Vascular causes:

  • Budd–Chiari syndrome
  • ischaemic hepatitis.


In cirrhosis, two-thirds of patients with alcoholic liver disease and 25 percent of those with other aetiologies report impotence. Reduced desire, difficulty in arousal and dyspareunia are described in 20–33 percent of women with chronic liver disease. 


Problems in the post-hepatic phase

Differentiating hepatocellular from cholestatic jaundice (due to biliary or impaired bile flow) is not straightforward – changes in bile pigment metabolism are the same in both, so dark brown urine due to bilirubinuria does not help, nor does spontaneous (or easily induced) bleeding (from nose or gums) or bruising, which may occur in both acute or chronic liver disease (often related to thrombocytopenia) and following malabsorption of fat-soluble vitamin K in cholestatic disease.

Itching (pruritus) in cholestasis may be due to high plasma concentrations of bile salts. In liver disease it is of variable severity, can be more prominent in the extremities rather than the trunk (and rarely affects the face and neck), especially after a hot bath or at night when the skin is warm. Impaired excretion of the bile is also associated with reduced stercobilinogen in the stool giving a clay colour to the stool. Frank fat malabsorption in complete biliary obstruction may lead to offensive fatty stools (steatorrhoea).

Right upper quadrant pain from distension and increased pressure within the bile duct in cholestatic jaundice may distinguish patients with obstructive jaundice from those with other cholestatic conditions. Pain due to obstruction from bile duct stones is not a consistent feature except in acute obstruction; although described as ‘biliary colic’, the pain does not wax and wane. Biliary pain is absent in most pancreatic tumours where obstruction is gradual yet complete, although the bile duct may be markedly dilated, presumably due to relatively low wall tension.

The functional reserve of the liver is so great that occlusion of intrahepatic ducts does not give rise to jaundice until ducts draining up to 75 per cent of the liver parenchyma are occluded. Some causes of cholestatic jaundice are listed in Box 9.7.




  • viral hepatitis
    • fibrosing cholestatic hepatitis – hepatitis B and C
    • cholestasis with hepatitis – hepatitis A and E, CMV, EBV
  • drugs:
    • pure cholestasis – anabolic steroids, pill
    • cholestatic hepatitis – co-amoxiclav,
    • flucloxacillin, erythromycin esteolate
    • chronic cholestasis – chlorpromazine
  • primary biliary cirrhosis
  • primary sclerosing cholangitis
  • inherited conditions:
    • Dubin–Johnson syndrome
    • Rotor’s syndrome
    • Progressive familial intrahepatic cholestasis
  • miscellaneous:
    • cholestasis of pregnancy
    • sepsis
    • total parenteral nutrition
    • paraneoplastic syndrome
  • Obstructive:
    • malignant
    • cholangiocarcinoma
    • pancreatic cancer
    • periampullary cancer
    • malignant involvement of the porta hepatis
    • lymph nodes
  • benign
    • choledocholithiasis
    • primary sclerosing cholangitis
    • chronic pancreatitis
    • acquired immune deficiency syndrome (AIDS)
    • cholangiopathy



Clinical signs help refine the estimates of pre-test probability of a condition and should be put in context of patients’ symptoms and presentations. Their negative predictive value may be low, for example a patient with compensated cirrhosis may have no clinical signs. Clinical signs may be:

  • very specific (e.g. a Kaiser–Fleischer ring, a brown ring at the periphery of the cornea due to deposition of copper in Descemet’s membrane in Wilson’s disease)
  • non-specific (e.g. clubbing)
  • epiphenomena (e.g. spider naevi (Fig. 9.2) – vascular abnormalities with central arteriole and radiating blood vessels like spider legs that point to chronic liver disease in someone with appropriate risk factors)
  • useful pointers to disease severity (e.g. portal hypertension and hepatic encephalopathy are markers of decompensated cirrhosis)
  • ‘complementary’ – multiple signs pointing to the same abnormality are valuable only when the initial findings are equivocal.



The general examination

In patients presenting with acute onset of symptoms, you must include clinical evidence of systemic inflammatory response such as tachycardia (heart rate >90bpm), body temperature <36 or >38°C or tachypnoea (respiratory rate >20/minute) in your initial observations. Hypotension (systolic BP <90 mmHg) with signs of shock (cold, clammy extremities in hypovolaemic shock or warm, sweaty skin in septic shock) should prompt immediate resuscitation.

Signs of dehydration

About 2L of fluids are consumed daily and 7L secreted into the gastrointestinal tract, so it is not surprising that dehydration is an important marker of severity in several digestive diseases. You must look for signs of dehydration in patients with diarrhoea. Simple indicators of mild dehydration (5 percent), especially in children, include:

  • skin turgor: checked by pulling up the skin on the back of an adult’s hand or child’s abdomen for a few seconds and checking how quickly it returns to the original state
  • capillary refill: measured by pressing a fingernail until it turns white, and taking note of the time needed for colour to return on release – normally less than 2 seconds.

Assessment of nutritional status

The ‘subjective global assessment rating’ has a high degree of interobserver agreement combining information regarding amount of weight loss in the last 6 months, functional capacity, gastrointestinal symptoms such as anorexia, nausea, vomiting, diarrhoea and their relation to nutrition with the elements of the physical examination (loss of subcutaneous fat, muscle wasting and ankle or sacral oedema). Patients are classified as well nourished, moderately or severely malnourished.

There may be signs of specific deficiencies such as:

  • flat angle or spooning of nails in iron deficiency
  • glossitis in iron and B12 deficiency
  • angular stomatitis (redness and cracks at the angles of the mouth (Fig. 9.3)) in association with deficiency of iron, riboflavin, folate and cobalamin (vitamin B12).



Body mass index (BMI) is the patient’s weight in kilograms divided by the square of the height in metres. An individual is considered overweight if BMI exceeds 25kg/m2, or obese if over 30kg/m2. Waist hip ratio (WHR) is the circumference of the waist (measured at the midpoint between the lower costal margin and the iliac crest) and the hip circumference (measured at the widest part of the gluteal region). Abdominal obesity (commoner in men) carries a poorer prognosis than gluteofemoral obesity (commoner in women). WHR of >1.0 in men and >0.85 in women has been shown to be associated with adverse health outcomes.

Appearance and cutaneous signs

Some diseases can be spotted straightaway, such as hyperand hypothyroidism, acromegaly and Addison’s disease. Perioral melanin deposition (Fig. 9.4) suggests Peutz–Jeghers syndrome which is associated with generalized gastrointestinal hamartomatous polyps most commonly in the jejunum. Oral and tongue telangiectasia are a hallmark of the Osler– Weber–Rendu syndrome; lesions in the gastrointestinal tract can result in iron deficiency anaemia.

Erythema nodosum, a type of inflammation in the fatty layer of skin, results in reddish, painful, tender lumps (1–5 cm), most commonly located in the lower leg. This may occur as an isolated condition or in association with:

  • inflammatory bowel disease
  • oral contraceptive pills
  • pregnancy
  • streptococcal infections
  • sarcoidosis
  • Behçet’s disease

Tender necrotic undermined skin ulcerations are suggestive of pyoderma gangrenosum (Fig. 9.5) typically associated with inflammatory bowel disease (especially ulcerative colitis) or systemic inflammatory conditions including rheumatoid arthritis and chronic myeloid leukaemia. 



Signs of liver disease

Parotid enlargement, Dupuytren’s contracture, hepatitis C infection (look for tattoos, needle tracks), gynaecomastia (see below) and spider naevi may point to chronic liver disease. Jaundice, bruising and flapping tremor may indicate decompensation. Primary or secondary biliary cirrhosis, causes of chronic cholestasis, may be associated with symmetrical yellowish plaques around the eyelids (xanthelasmas). Persistent intrahepatic cholestasis in childhood has been associated with a characteristic facial appearance of widely set eyes, a prominent forehead, flat nose and small chin.

  • Jaundice is apparent in adults when serum bilirubin level exceeds 2.5–3.0 mg/dL (42.8–53 mmol/L).
  • Subconjunctival haemorrhage is often seen in leptospirosis and with acute liver failure from any cause, while bruising of periorbital skin raises a possibility of amyloid.
  • Increased pigmentation is seen with chronic cholestatic conditions, haemochromatosis and porphyria cutanea tarda.
  • Vitiligo, a common patchy depigmentation due to autoimmune destruction of melanocytes (seen in 1 percent of the population) is also associated with primary biliary cirrhosis and autoimmune hepatitis.
  • Enlarged parotids are seen in patients with cirrhosis due to alcohol misuse and/or malnutrition; these are painless and non-tender with patent ducts and increased secretion.
  • Spider naevi may be observed anywhere above the umbilicus. They may be seen in women taking oral contraceptives or during pregnancy, or in chronic liver disease, especially in men. In alcoholic liver disease, they are large and numerous, often in association with redness of thenar and hypothenar eminences (palmar erythema).
  • Gynaecomastia (Fig. 9.6), a tender palpable enlargement of glandular breast tissue under the areola, should be distinguished from breast enlargement due to obesity (lipomastia), which may be seen in normal men due to the conversion in peripheral tissue of circulating androgens to oestrogen. Feminization, manifesting as gynaecomastia and thinning of body hair, occurs when the testosterone:oestradiol ratio is less than the normal 100:1. Except for physiological states (adolescence and ageing), gynaecomastia occurs in some males with liver disease and with drugs such as spironolactone.
  • ‘Flapping tremor’ (asterixis) describes brief, intermittent flexion of fingers or wrists, with a rapid return to the original position, affecting the shoulders and head when severe. Flaps are not specific for hepatic encephalopathy, and occur in uraemia, respiratory failure and hypokalaemia.
  • Dupuytren’s contracture, thickening and shortening of palmar fascia causing fixed flexion deformity of fingers, affects up to 20 per cent in men over 65 years, perhaps due to free radical formation from the action of xanthine oxidase on hypoxanthine. It is more frequently seen in individuals with history of alcohol excess.
  • White nails, transverse white lines and clubbing are too non-specific to be helpful in diagnosis.
  • Testicular atrophy is common in cirrhotic males, particularly with alcoholic liver disease or haemochromatosis.




Abdominal examination

Figure 9.7 shows the four abdominal quadrants used for descriptive purposes and Table 9.1 lists the organs within each quadrant.


Figure 9.7 The four quadrants of the abdomen.


Table 9.1 Abdominal organs and the quadrants they are usually present in.


Stand on the patient’s right side with the patient supine and the bed or couch at a comfortable height. Ideally, the entire abdomen from xiphisternum to symphysis pubis should be exposed, but you may need to adapt the clinical examination to respect patients’ sensitivity and cultural differences.

The abdominal contour is normally flat or slightly concave. A scaphoid abdomen with marked concavity may correlate with weight loss. Abdominal distension may be due to:

  • obesity (fat)
  • gaseous distention (flatus)
  • ascites (fluid)
  • abdominal mass (fatal if cancerous)
  • in women, pregnancy (fetus).

As fluid accumulation in ascites starts in the pelvis and extends along the paracolic gutters, characteristic bulging at the flanks appear in moderate and large ascites. Obesity usually causes a more uniformly rounded abdomen with a deep umbilicus (as it is adherent to the peritoneum). Asymmetry of the abdominal contour may indicate the presence of a mass in the abdomen. An everted umbilicus indicates increased intra-abdominal pressure due to ascites or an intra-abdominal mass.


An umbilical hernia can also cause the umbilicus to be everted. Umbilical hernias protrude through a defective umbilical ring; they are commoner in infants than adults. Incisional hernia protrudes through an operative scar and an epigastric hernia is a small midline protrusion through a defect in the linea, best noticed with the patient flexing the head. Ascites, obesity, previous surgeries and multiparous women may cause a midline ridge due to separation or divarication of the rectus abdominis muscles.

Note the location of postoperative scars and any surgically created scar from an ileostomy, jejunostomy or colostomy. Silvery striae (‘stretch marks’) are normal in parous women and in the obese, and reddish-purple striae occur in many with Cushing’s syndrome and obesity.    

Abdominal wall bruising (ecchymosis) is considered a sign of intraperitoneal or retroperitoneal haemorrhage; ecchymosis in the periumbilical area (Cullen’s sign (Fig. 9.10)) or in the flanks (Grey Turner’s sign) occurs in less than 3 percent of patients with acute pancreatitis. Erythema ab igne, areas of reticular erythema, are due to repeated exposure to moderate heat (e.g. from a hot water bottle).


A hard subcutaneous nodule (Sister Mary Joseph’s nodule) may represent metastatic carcinoma of the umbilicus; it is important to differentiate this from a hardened concretion of keratin and sebum due to poor hygiene (omphalolith) – most of the former have stomach, colonic, pancreatic or ovarian malignancy with a median survival of less than a year. Visible intestinal peristalsis rolling across the abdomen may be a sign of intestinal obstruction but is not diagnostic.

In fetal life umbilical veins terminate in the left branch of portal vein; high portal pressure may open these, seen as dilated veins that radiate away from the umbilicus, popularly termed ‘caput medusae’. Dilated veins may also be seen in inferior vena cava obstruction and in superior vena cava obstruction involving the azygous veins. In theory, blood should flow downwards from the umbilicus in portal hypertension and upwards in vena caval obstruction (but most dilated abdominal veins do not have any competent valves and flow can usually be demonstrated in both directions).


Palpation and percussion

Avoid palpation when your hands are cold as this could trigger involuntary abdominal muscle contraction (guarding). Ask if anywhere is painful or tender – defer palpating these areas to the end of the examination. Palpate lightly in all four quadrants with a slight ‘dipping’ motion, assessing for tenderness and areas of guarding. Then palpate more deeply, depressing the abdomen about 3–5cm to delineate abdominal masses, their location, shape, size and consistency and detect the presence of tenderness, pulsations and movement with respiration. Traditionally, many eponymous signs have been considered ‘diagnostic’, but their specificity and sensitivity has been found to be too low for these signs to be considered reliable.


The biological variation in normal bowel sounds is immense with changes in pitch, tone and frequency from moment to moment. Bowel sounds are not a good indicator of recovery from postoperative ileus. In peritonitis, bowel sounds may be diminished or absent but are too unreliable for clinical practice. There are no reliable auscultatory sounds in the diagnosis or surveillance of liver tumours.

Abdominal epigastric bruits caused by turbulent flow of blood though intra-abdominal or abdominal wall vessels are common. A short faint midsystolic bruit in an asymptomatic patient is of no consequence and does not warrant investigation. Abdominal bruits are more frequent in hypertension (especially those with renal artery stenosis) and aortic aneurysms, although sensitivity is too low for screening purposes. Bruits from hepatocellular carcinoma and cirrhosis are best heard in the right upper quadrant and from splenic arteriovenous fistulas and carcinoma of the body of the pancreas in the left upper quadrant. Periumbilical bruits can be heard occasionally in the setting of mesenteric ischaemia. Venous hums are low pitched, soft and continuous, and are sometimes heard in portal hypertension.

Specific aspects of the abdominal examination


Liver and gallbladder

Normal livers are not as easy to feel as diseased, firm enlarged livers. The liver is pulsatile in tricuspid regurgitation; however, expansile pulsations are difficult to distinguish clinically from transmitted aortic pulsations.

Start the examination over the right lower quadrant. Place your hand parallel to the costal margin lateral to rectus and press gently and firmly, moving the palm upward 2–3 cm at a time towards the lower costal margin. During inspiration, the liver is moved downward by the diaphragm and may ‘flip’ over the index finger; note the lowest point below the costal margin and its consistency (soft/firm/hard) and texture (smooth/nodular). Its upper border can be established later by percussing in the mid-clavicular line – the resonant note over the air-filled lung contrasts with the dullness over the liver – the liver is generally less than 12 cm from upper to lower border (Fig. 9.12).


Figure 9.12 The surface markings of the liver, showing the site at which the span is measured.


The normal gallbladder is not palpable unless enlarged; if painless, this is often associated with malignant obstruction of the common bile duct, while painful enlargement is usually due to inflammation (empyema or cholecystitis). Gallstones are an unlikely cause of enlarged gallbladder in a jaundiced patient (Courvoisier’s law). Periampullary cancer or carcinoma of the head of pancreas may present as painless jaundice with a palpable gallbladder.



Some patients with cholecystitis may have tenderness that is triggered during palpation as the gallbladder descends on inspiration (called Murphy’s sign) but this sign is not diagnostic. Courvoisier’s sign is jaundice with a palpable, non-tender gallbladder; early presentation and easily available imaging mean the high intraductal pressure of biliary obstruction needed to enlarge the gallbladder is rarely seen, so this sign is of purely historical interest.


The spleen

The spleen is a curved wedge, about 12cm long, that follows the course of the bony portion of the left tenth rib. It enlarges in the same line, descending below the ribs across the abdomen to the right iliac fossa. An enlarged spleen (splenomegaly, Box 9.8) may be felt as a mass in the left upper quadrant moving downwards and inwards during inspiration.

In the supine patient, palpate gently first in the right iliac fossa, proceeding diagonally past the umbilicus to the left costal margin as the patient inspires deeply. The spleen may be easier to feel with the patient in right lateral decubitus position, so that the spleen shifts a little due to gravity. The percussion note is always dull, as the spleen is anterior to the bowel, distinguishing this from other abdominal structures.



  • Infections: infectious mononucleosis, infective endocarditis, malaria, leishmaniasis, viral hepatitis.
  • Disorders of immune system: immune thrombocytopenia, systemic lupus erythematosus.
  • Disordered splenic blood flow: portal hypertension, splenic vein thrombosis.
  • Haemolytic anaemias: spherocytosis, thalassaemia.
  • Infiltrative diseases:
    • benign: amyloidosis, Gaucher’s disease
    • malignant: lymphomas, myeloproliferative disorders.



The kidneys may be palpable in thin normal individuals especially women. The kidneys are palpated bimanually using the technique of ballottement.

To palpate the right kidney, stand to the right side of the abdomen, with your left hand behind the right flank between the costal margin and the iliac crest with the tips of your fingers lateral to the hand is placed anteriorly across the abdomen just below the costal margin. Exert firm pressure downward with the fingers of your right hand. With the patient taking deep breaths, flip the fingers of your left hand a few times upwards. The kidney is felt to bump against the fingers of your right hand. Similarly, the left kidney is felt by placing your left hand under the left flank and your right hand is placed anteriorly on the abdominal wall. Occasionally the spleen may be mistaken for an enlarged left kidney. See Box 9.9 for a list of points that help differentiate between an enlarged left kidney and a spleen.



  • Presence of a notch on the medial surface of the spleen.
  • Can go above the upper margin of the mass (if left kidney).
  • Direction of the mass would be oblique along the left tenth rib (if spleen).
  • The kidney would be ballottable and bimanually palpable (massive spleen may also be bimanually palpable).
  • Cannot insinuate fingers between the mass and the costal margin in splenomegaly.
  • Lobulated or irregular mass more likely to be kidney.
  • The splenic mass will move appreciably with respiration.



Renal angle tenderness is pain elicited on striking the patient firmly with the heel of a closed fist over the acute angle formed between the twelfth rib and the vertebral column (costovertebral angle). A finding of costovertebral angle tenderness is suggestive of pyelonephritis. This has not, however, been formally studied and no firm recommendations can be made.



Accumulation of free fluid in the abdomen is ascites; its development carries an adverse prognosis. It can be due to:

  • cirrhosis
  • malignancy
  • heart failure
  • tuberculosis
  • nephrotic syndrome
  • other rarer causes (e.g. myxoedema, vasculitis).

When supine, fluid gravitates to the flanks and the air-filled intestines float on top, causing:

  • bulging flanks (often difficult to distinguish from obesity just on inspection)
  • flank dullness as the air-filled intestines float to the top (percussion note is tympanic centrally over air and dull over bowel in the flanks)
  • shifting dullness – identify in the supine patient where fluid is (the percussion note is dull) and where bowel is (the percussion note is resonant); position the hand over the fluid–air interface (part of the hand is over fluid and part over air), roll the patient onto the side, wait for the fluid to settle and percuss again – if there is a significant amount of fluid, the gas-filled bowel will have been lifted by the ascitic fluid so that the percussion note is now resonant
  • fluid thrill – the patient (or an assistant) places the edge of a hand firmly down the midline of the abdomen as you tap one flank sharply (Fig. 9.13); if there is ascites, your other hand will feel a transmitted impulse in the opposite flank.

Along with these signs, most patients with ascites have peripheral oedema – due to hypoalbuminaemia and probably from pressure of the peritoneal fluid compressing the veins draining the legs.


Examination of the abdominal aorta

The normal aorta bifurcates at the umbilicus and therefore palpable aortic aneurysms are typically found in the epigastrium. It is often readily palpable in thin individuals and those with lax abdominal vasculature and is usually less than 2.5cm in estimated diameter. With the patient supine, the aortic pulsation is usually felt a few centimetres above the umbilicus and slightly to the left of the midline.

An estimated aortic diameter (by placing one hand on each side of pulsations) greater than 3cm is considered to be a positive finding. Although Sir William Osler emphasized the expansile pulsation more than 100 years ago, it is the width and not the intensity of the pulsation that determines the diagnosis of abdominal aortic aneurysm (AAA).



Obesity limits the effectiveness of abdominal palpation in detecting AAA. Hence physical examination cannot safely exclude a diagnosis of AAA and ultrasound should always be done in patients in whom there is a high index of suspicion regardless of the physical findings.


Examination of hernial orifices

The inguinal canal extends from the pubic tubercle to the anterior superior iliac spine and carries the spermatic cord in the male and the round ligament in the female. The internal ring is an opening in the transversalis fascia and lies in the mid-inguinal point halfway between the pubic symphysis and the anterior superior iliac spine. The external ring is an opening of the external oblique aponeurosis and lies immediately above and medial to the pubic tubercle. A direct inguinal hernia is herniation through the external ring and is uncommon, while indirect inguinal hernia is common (85 percent of all hernias) and is more likely to strangulate, as the bowel and omentum can travel down the canal and protrude through the internal ring into the scrotum.

Examination for inguinal hernias is best done with the patient standing up and undressed from the waist down. An expansile cough impulse is diagnostic of a hernia. Table 9.2 lists the points that differentiate an indirect from a direct inguinal hernia.

Table 9.2 Differences between direct and indirect inguinal hernias


Digital examination of the rectum

The routine examination of the abdomen usually concludes with the digital examination of the rectum. The importance of the rectal examination is stressed by the surgical aphorism attributed to Hamilton Bailey – ‘if you don’t put your finger in it, you might put your foot in it.’

The examination of the rectum can be done with the patient in the left lateral position with the right knee flexed and the left knee semi-extended, or in the standing position bent over with the shoulders and elbows supported on the examination table. Your gloved right hand is used to examine the anus and your gloved left hand spreads the buttocks for better visualization.

Inspect the anal skin for fissures, excoriation, signs of inflammation, warts, fistulae, haemorrhoids, scar and tumours. Visualization of fissures and haemorrhoids improves when the patient is asked to strain. After informing the patient that the rectal examination is going to be done, place your lubricated (with KY jelly) right gloved index finger on the anal verge; the sphincter relaxed by gentle pressure of the palmar surface of the finger. As the sphincter relaxes insert your index finger into the anal canal (Fig.9.14). Assess the sphincter tone and then insert your finger as far up the rectum as possible (depending on the length of the examining finger). Feel the lateral walls of the rectum by rotating your index finger along the sides of the rectum. Palpate the posterior and anterior walls as well, for polyps, irregularities or tenderness. 


Figure 9.14 How to perform a rectal examination (a, b). (c) The position of the prostate gland. (d) The position of the cervix.


Intraperitoneal metastasis may be felt anterior to the rectum as a hard and shelf-like structure protruding into the rectum, resulting from malignant deposits in the pouch of Douglas. This has been referred to as Blumer’s shelf. 

Assess the size, shape and consistency of the prostate gland, which lies anterior to the rectum. Only the lower apical portion of the gland is usually palpable. The presence of a hard nodule making the prostate asymmetrical is likely to be malignant, and a symmetrically enlarged soft gland is likely to be due to benign prostatic hypertrophy. 

Withdraw your examining finger and inspect it for faecal matter (colour and presence of blood). Finally, tests of faecal occult blood can be performed on the faecal matter sticking to the gloved index finger. 

Tenderness and fullness on the right but not on the left side on rectal examination is believed to be indicative of pelvic appendicitis. The utility of the rectal examination in patients with acute appendicitis is questionable, as some studies have shown that abdominal signs are better predictors of appendicitis than rectal examination. If patients presenting with pain in the right lower quadrant of the abdomen are tested for rebound tenderness then rectal examination does not give any further diagnostic information.



  • The left lobe of an enlarged liver may be mistaken for the spleen, especially when there is a deep fissure between two lobes of the liver. Carefully mapping the lower border of the liver may help in making the distinction.
  • Liver pulsatility may be due to tricuspid regurgitation or transmitted from the aorta. In the former, expect a raised jugular venous pressure and peripheral oedema.
  • The left kidney may be mistaken for an enlarged spleen – the clue is in the percussion note – the kidney is usually resonant, the spleen dull. It is sometimes possible to get above the renal mass and to insert the hand between the renal mass and left costal margin (unlike the spleen).



Commonly used investigations in gastroenterology and their indication and positive findings and interpretation are outlined below. Note that many of these tests are used in other specialities as well, but their uses in the setting of purely gastrointestinal disorders are described here.


Radiological investigations

Table 9.3 summarizes the common investigations, findings and their interpretation in patients with gastrointestinal diseases.


Table 9.3 Common findings on chest X-ray, abdominal X-ray and abdominal ultrasound in patients with gastrointestinal diseases


Chest X-ray (erect)

  • Indication: To assess for perforation of the intestine.
  • Positive findings: Sliver of air under the diaphragm, air in the mediastinum and/or pleural effusion.
  • Interpretation: Perforation of the intestine either as a result of a peptic ulcer or diverticular perforation or secondary to an endoscopic procedure. Air in the mediastinum usually indicates oesophageal perforation and occasionally this can be associated with pleural effusions. Pleural effusions can also be seen in patients with ascites (hepatic hydrothorax) and in some patients with acute pancreatitis who typically have left-sided pleural effusions.

Abdominal X-ray

  • Indications: To look for intestinal obstruction, for the presence of toxic megacolon in patients with inflammatory bowel disorders.
  • Positive findings: Dilated fluid filled intestinal loops with air fluid levels, faecal loading in patients with constipation.


Ultrasound is a useful test in assessing the liver, spleen, portal and hepatic venous blood flow especially when combined with Doppler. In patients with suspected liver cirrhosis, portal hypertension is associated with splenomegaly, ascites and occasionally collaterals. Portal and hepatic vein flow can be assessed using a Doppler study.

Ultrasound is the test of choice for the detection of gallbladder stones as the majority of these are radiolucent and not seen on computed tomography (CT) scans.

In the assessment of patients with jaundice, ultrasound can detect intrahepatic biliary dilation and dilated common bile ducts (indirect evidence of biliary obstruction) as well as the presence of liver metastasis. However, it is quite insensitive for the detection of stones in the common bile duct (other modalities such as endosonography (EUS), magnetic resonance cholangiopancreatography (MRCP) and endoscopic retrograde cholangiopancreatogram (ERCP) are necessary for the diagnosis when bile duct stones are suspected).

Ultrasound is also useful in assessment of intraabdominal (especially liver) abscesses and cysts. Liver biopsies and aspiration of liver abscesses are usually performed under ultrasound guidance.

Barium studies

Barium swallow

This is mainly used for assessment of dysphagia, and is useful for the demonstration of strictures, diverticula and a pharyngeal pouch. The barium swallow has been largely superseded by the use of endoscopy for other indications. Video fluoroscopy for assessment of swallowing is, however, still widely used. Water-soluble contrast such as Gastrografin can be used when perforation is suspected.

Barium meal follow through and small-bowel enema

The use of barium tests for assessment of the stomach and duodenum has been supplanted by endoscopy. Barium meal follow-through and small-bowel barium enema are now mainly used for the assessment of small-bowel strictures and masses in patients with Crohn’s disease, NSAID and radiation enteropathy and small-bowel lymphomas. 

More recently, CT and MRI enterography have been shown to be better at assessing the small bowel. As they can provide information on luminal as well as extraluminal pathology, these techniques are replacing barium-based tests for assessment of small intestinal disease.

Double contrast barium enema

Air contrast barium enemas have also been largely supplanted by colonoscopy for assessment of largebowel symptoms. Colonoscopy has the advantage of being superior at detection of polyps and can provide tissue for diagnosis. Also polyps can be excised via the colonoscope and therefore barium enemas are now frequently used either because of an incomplete colonoscopy (caecum not visualized) or when colonoscopy carries an increased risk. Barium enema is, however, useful in the detection of colonic diverticula as these can be overlooked at colonoscopy. CT scans have become the preferred modality for assessment of diverticular disease are they can accurately detect diverticula as well as provide information on the presence of complications such as diverticular abscesses and perforation at the same time.

Computed tomography

Computed tomography has increasingly become the diagnostic modality of choice for the assessment of patients with acute abdominal pain. Spiral CT avoids artefacts from multiple breath-holds and has become the standard choice. When combined with oral and intravenous contrast it is useful in the assessment of liver disease, luminal and extraluminal pathology. It can provide information on the presence of ischaemia (absence of intravenous contrast) and inflammation (increased intravenous contrast reaching the abnormal area causing it to ‘light up’). It is also useful in detection and assessment of space-occupying lesions in the liver and to pick up thrombosis of intra-abdominal vasculature. Computed tomography is also the preferred modality to assess patients with pancreatic disease and is routinely used for assessment of patients with intra-abdominal cancers to assess local as well as metastatic spread and lymphomas to look for nodal and splenic disease. It is, however, not useful in the detection of gallstones as these are generally radiolucent.

CT colography or virtual colonoscopy is considered an alternative non-invasive test to look for colorectal polyps, but it is less accurate than colonoscopy at the present time (especially for small polyps).

Magnetic resonance imaging

The most common indication for magnetic resonance imaging (MRI) was in the assessment of the biliary tree for common bile duct stones/strictures and the presence of primary sclerosing cholangitis. MRI, especially with contrast agents (such as gadolinium and ferrite iron-oxide), is now increasingly used in specialist centres for the assessment of liver masses. MR enterography has also been shown useful in the assessment of the small bowel in patients with Crohn’s disease and is rapidly replacing barium tests for this indication.


Selective mesenteric angiograms are used in patients with gastrointestinal bleeds either refractory to endoscopic therapy or beyond the reach of the endoscope. Bleeding vessels can be embolized at the same time.


Endoscopic investigation

The advantage of endoscopic examination is not only direct visualization of the lumen of the intestine, but also the possibility of taking biopsies for histopathology and brushings for cytology. Also, several therapeutic procedures like polypectomy, stenting and treatment of bleeding ulcers and vessels can be safely performed via the endoscope.

Upper gastrointestinal endoscopy or oesophagogastroduodenoscopy

Upper gastrointestinal endoscopy using a flexible video endoscope can assess the oesophagus, stomach and first and second parts of the duodenum. It is commonly used for the assessment of upper gastrointestinal symptoms.

Lower gastrointestinal endoscopy or colonoscopy

The reach of the colonoscope is from the rectum to the caecum and the terminal 2–3 cm of the ileum. Colonoscopy usually requires prior bowel preparation to cleanse the colon. It is used mainly in the assessment of patients with diarrhoeal disease including ulcerative and microscopic colitis and Crohn’s disease as well as screening and assessment of patients with colonic polyps and cancer. Proctoscopy and rigid sigmoidoscopy are often used as outpatient procedures to assess the anal canal and rectum/proximal sigmoid, respectively. A flexible sigmoidoscopy is a limited examination with a flexible endoscope where the left colon (usually up to the splenic flexure) is assessed.

Small bowel examination

Visualization of the small bowel with endoscopy is a more recent innovation and it is thought that these tests will supplant traditional radiological tests as they become more widely available.

Capsule endoscopy

This involves swallowing a small capsule containing a charge-coupled device (CCD) camera, battery and transmitter and transmits images of the intestine captured on a recording device. Capsule endoscopy is used for the assessment of obscure gastrointestinal bleeds and small bowel inflammatory disorders including Crohn’s disease.

Push and balloon enteroscopy

Enteroscopy with a long flexible endoscope can assess the upper gastrointestinal tract up to the upper jejunum. Balloon enteroscopes use an overtube with either one or two balloons to facilitate insertion of the enteroscope deeper into the small bowel. These tests are commonly performed to either biopsy or treat lesions detected on capsule endoscopy or radiological investigation of the small bowel.

Endoscopic retrograde cholangiopancreatography

Endoscopic retrograde cholangiopancreatography (ERCP) involves utilizing a flexible endoscope with the camera positioned on the side rather than endon in order to visualize the ampulla in the duodenum clearly. Through the working channel of this endoscope the bile ducts are cannulated with a catheter and dye injected into the bile ducts to visualize them on fluoroscopy (X-ray). This test is usually performed when bile duct stones are suspected or if there is biliary obstruction due to benign/malignant stricture. Bile duct stones can be extracted using a variety of techniques including biliary balloons and baskets and bile duct obstruction relieved using plastic and metal stents.

Endoscopic ultrasound

Endoscopic ultrasound (EUS) combines both video endoscopy and sonography in one system and is being increasingly used as a diagnostic and therapeutic procedure in gastrointestinal disease. The main indications for EUS include local staging of oesophageal, gastric and pancreatobiliary malignancies. It is also useful in detection of common bile duct stones and diagnosis of chronic pancreatitis. EUS-guided biopsy and cytology of mediastinal nodes, peri-oesophageal/ gastric nodes and pancreatic masses is now routinely performed. EUS-guided coeliac plexus blocks are also used in alleviating pain secondary to pancreatic cancer infiltrating the coeliac plexus of nerves.


Manometry and pH studies


Oesophageal manometry

This is useful in the diagnosis of achalasia cardia and other motility disorders of the oesophagus such as diffuse oesophageal spasm. This can be done using multichannel pressure recorders which are either perfused or solid state systems.

Oesophageal pH and impedance

The 24-hour ambulatory oesophageal pH monitoring test is used for the assessment of gastrooesophageal reflux disease. A pH sensor is placed about 5 cm above the gastro-oesophageal junction either via a nasal catheter or by an endoscopically or transnasally placed capsule (which transmits the pH to a recorder wirelessly). Oesophageal multichannel intraluminal impedance detects oesophageal bolus transport and can identify weak acid and bilious and non-acid reflux. It is particularly useful in assessing patients with GORD who have symptoms despite medical treatment.

Anal manometry

Anal manometry tests the pressures generated by the anal sphincter and its ability to respond to signals. It also assesses the sensitivity and function of the rectum. In combination with endo-anal ultrasound, which can assess the structure of anal sphincter, anal manometry is useful in assessing patients with faecal incontinence and those with pelvic floor dysfunction.


Breath tests

Urea breath test

This test detects urease produced in the stomach by Helicobacter pylori. Patients ingest 13C-labelled urea, which is split up by the urease leading to the production of 13C-labelled carbon dioxide, which is detected in the breath of the patient.

Hydrogen breath test

Malabsorption of sugars such as lactose (lactose intolerance) is detected by measuring breath hydrogen after ingestion of 50 g of the sugar (lactose). The undigested sugars are fermented by anaerobes in the colon to produce hydrogen, which is excreted in the breath.

Lactulose or glucose hydrogen breath tests

These tests are used to investigate small-bowel bacterial overgrowth. Breath hydrogen is measured every 15–30 minutes for 3 hours after ingestion of 50 g glucose/lactulose. A rise in breath hydrogen as the substrate enters the small bowel indicates small-bowel overgrowth.


Tests for H. pylori

Besides the urea breath test mentioned above, there are several ways to detect H. pylori

CLO test

The Campylobacter-like organism (CLO) test is performed during upper gastrointestinal endoscopy by inoculating a mucosa biopsy from the antrum of the stomach into a medium containing urea and phenol red, a dye that turns pink at a pH of 6.0 or greater. Urease produced by H. pylori metabolizes urea to ammonia and raises the pH above 6.

Gastric biopsy

Routine histological analysis of gastric antral biopsies can often detect the presence of H. pylori. The sensitivity of this test can be improved by using special stains.

Stool antigen tests

Presence of H. pylori antigen in the stool detected by an enzyme immunoassay (EIA) has been shown to be accurate in the detection of H. pylori.

Serology for H. pylori

Serological testing for antibodies to H. pylori (usually IgG) using the enzyme-linked immunosorbent assay (ELISA) has become a widely accepted, simple, inexpensive, and readily available diagnostic test with high sensitivity. The antibody titres decline slowly with time after treatment, but the rate of decline and cut-off values are unclear.




The ‘acute abdomen’

The onset of fairly abrupt abdominal pain and tenderness requires urgent diagnosis and may lead to surgical intervention. The diagnosis of abdominal pain usually combines history, physical examination and laboratory tests; ultrasound and CT imaging have not proven superior to careful evaluation of symptoms and physical examination. Bear in mind that no single test has ideal specificity and sensitivity.

In peritoneal inflammation (peritonitis), sudden movements such as coughing elicit pain, so observe the patient during examination. Guarding and rigidity (reflex spasm of the abdominal wall) may occur during examination; distracting the patient can diminish guarding but not rigidity. If during palpation pressure on the abdomen is released suddenly and the patient winces with pain, rebound tenderness is present.

In appendicitis, maximal pain and tenderness occurs at McBurney’s point, usually about a third of the way up a line joining the right anterior superior iliac spine and the umbilicus. Rovsing’s sign may be present – releasing pressure on the left lower abdominal quadrant of the abdomen causes pain in the right lower quadrant. There may also be localized peritoneal irritation of the psoas muscle – pain increases when the patient lifts the thigh against resistance (psoas sign) or when the obturator muscle is stretched when the right hip and knee are flexed and the hip internally rotated.




Gastro-oesophageal reflux disease

The reflux of stomach acid into the lower oesophagus is referred to as GORD. Reflux becomes more likely when there is raised intra-abdominal pressure or a hiatus hernia (reducing the pressure at the lower oesophageal sphincter). Endoscopy may reveal erythema, erosions or ulcers in the lower oesophagus or may be normal. Non-erosive reflux disease is the term used to describe patients with typical reflux symptoms but normal endoscopy. Patients with GORD are usually investigated with oesophageal manometry and 24-hour oesophageal pH and impedance monitoring. Lifestyle modification and antisecretory therapy (with either H2-receptor antagonists or proton-pump inhibitors) is the mainstay of therapy. Antireflux surgery (most commonly a laparoscopic Nissen’s fundoplication) is reserved for patients refractory to medical therapy.

Barrett’s oesophagus

Usually considered a complication of longstanding reflux disease, Barrett’s oesophagus is replacement of the squamous epithelium in the oesophagus with columnar mucosa (often with specialized intestinal metaplasia). This is found in approximately 5–15 per cent of patients with GORD; however, large subgroups of patients with Barrett’s oesophagus do not have symptoms. About 0.5 per cent of patients with Barrett’s oesophagus develop cancer every year.

Achalasia cardia

Failure of a hypertensive lower oesophageal sphincter to relax before the oncoming bolus of food results in achalasia cardia. There is damage to the oesophageal intramural nerve plexuses with denervation of the oesophageal smooth muscle. Progressive dysphagia and regurgitation of food are prominent symptoms and weight loss is common. The diagnosis is made usually by either a barium swallow, endoscopy or oesophageal manometry.

Carcinoma of the oesophagus

Progressive dysphagia initially to solids and later to liquids is the classical history in patients with carcinoma of the oesophagus. Pain and regurgitation of food are frequent, ultimately leading to weight loss and signs of malnutrition. Upper gastrointestinal endoscopy with biopsies is the diagnostic modality of choice. Local staging of the extent of the tumour into the oesophageal wall and mediastinum is best done by endoscopic ultrasound. A CT scan of the chest and abdomen helps assess for distal metastasis prior to considering resectional surgery.





Acute gastritis is commonly due to either the use of NSAIDs or alcohol misuse and presents with abdominal pain. Chronic gastritis is most commonly secondary to Helicobacter pylori infection, but autoimmune gastritis (pernicious anaemia), NSAID use and bile reflux have all been implicated.

Ulcer diathesis

This is often called peptic ulcer disease (PUD) and is characterized by ulcers or erosions of the stomach and duodenum. A majority of cases are due to Helicobacter pylori infection, but NSAIDs and aspirin are also responsible for an increasing number of cases. Gastrin-producing tumours (gastrinomas) are a rare cause for multiple peptic ulcers. Smoking increases the risk of having peptic ulcer disease. Epigastric pain and dyspepsia are common symptoms. Hunger pains are believed to be more typical of duodenal ulcers but symptoms have not been shown to be reliable in predicting the presence of peptic ulcers. Patients with alarm symptoms (bleeding, anaemia, weight loss, epigastric mass, difficulty swallowing) should undergo prompt endoscopy. Peptic ulcers may be complicated by gastrointestinal bleeding, perforation or pyloric stenosis in approximately 10 per cent of patients.

Gastric cancer

Gastric cancer is more often found in patients with alarm symptoms described above. More often than not the diagnosis is made incidentally at endoscopy.

Patients with recent onset of symptoms over the age of 45 and those with a family history of stomach cancer as well as those with alarm symptoms should have prompt endoscopy to exclude cancer of the stomach.


Small and large intestine


Coeliac disease

In coeliac disease sensitivity to gluten (the protein found in wheat, barley, and rye) results in inflammation of the small-bowel mucosa causing blunting of the villi. The reduction in absorptive surface of the small bowel leads to malabsorption of dietary nutrients to a variable degree. Serological tests such as antitissue transglutaminase antibodies are very sensitive and antiendomysial antibodies are fairly specific for this condition. Endoscopic mucosal biopsies from the duodenum showing blunted or absent villi with the presence of intraepithelial lymphocytes are confirmatory. The most severe cases are usually diagnosed in childhood with fat malabsorption and diarrhoea. In adults with less severe symptoms, the presence of iron deficiency anaemia and osteoporosis are indicators to test for the possibility of coeliac disease.



Crohn’s disease

Crohn’s disease is an inflammatory bowel disease that can affect any part of the intestine but mainly affects the distal small bowel and proximal large bowel around the ileocaecal valve. The inflammation in Crohn’s diseases is transmural and thickening or fibrosis of the bowel can result in narrowing and strictures. Penetrating ulcers can lead to the formation of fistulae either between the abdominal viscera or to the skin. Presence of skip lesions with normal areas in between diseased areas is characteristic and granulomas are often noted on histology.

Patients typically present with abdominal pain and diarrhoea, but gross bleeding is rare. Systemic symptoms such as fever are common. Patients with perianal disease may present with either perianal abscesses or fistulae that often need surgical drainage. Patients with disease localized to the ileocaecal region may present with colicky abdominal pain, fever and a tender right iliac fossa mass mimicking appendicular mass/abscess. Diagnosis is usually confirmed by typical radiological and endoscopic appearances with the presence of chronic inflammation on mucosal biopsies. The presence of noncaseating granulomas is noted in less than 50 per cent of cases but is characteristic of this disease.

Ulcerative colitis

Ulcerative colitis is a characterized by inflammation limited to the mucosa of the large bowel with recurrent ulceration. The major symptoms of ulcerative colitis include diarrhoea, rectal bleeding, passage of mucus and abdominal pain. The symptom complex tends to differ according to the extent of disease. Rarely patients with proctitis alone may present with marked constipation. Symptoms have usually been present for weeks, or even months; the slow, insidious onset is characteristic of the disease. Acute presentations of ulcerative colitis mimicking an infective aetiology are not uncommon. Acute severe colitis requires inpatient management due to substantial risk of complications such as toxic megacolon and perforation.

Carcinoma of the colon

Large-bowel cancer can be further divided by the anatomical location of the tumour into colon and rectal cancer. This distinction is important as both the operative and adjuvant treatment of these tumours differs. Symptoms often depend on the location of the tumour. Abdominal pain, bleeding per rectum, change in bowel habit and anaemia are characteristic symptoms. Rectal cancer can present with anal pain, tenesmus and rarely incontinence. Right-sided colonic tumours present more insidiously with anaemia and rarely obstruction to the ileocaecal valve. Left-sided colonic tumours are more likely to present with obstruction as the left colon is of narrower calibre, with more circumferential lesions and a firmer stool consistency. With the advent of colon cancer screening, many patients are asymptomatic.

Diverticular disease

Diverticula or outpouchings of the bowel are most commonly seen in the colon, but also rarely in other parts of the gastrointestinal tract. Microperforation of a diverticulum and the resultant extracolonic or intramural inflammation leads to diverticulitis, and erosion into an artery at the diverticular mouth can lead to a diverticular bleed. Diverticulosis is usually asymptomatic and found incidentally at colonoscopy or with a barium enema. Though it is often found in individuals with abdominal pain or a change in bowel habit, a causal relationship has not been implicated. Diverticular bleeding can present with profuse bright red bleeding per rectum occasionally with haemodynamic compromise. Most bleeds resolve spontaneously, but rarely angiography and embolization of the bleeding vessel or surgery are required. Left lower quadrant pain with fever and diarrhoea are typical of diverticulitis.




Acute hepatitis

The diagnosis implies acute inflammation of the liver. Clinically, the course of acute hepatitis varies widely with non-specific flu-like symptoms at the onset associated with fever, anorexia, nausea and vomiting and jaundice that follows leading to fulminant hepatic failure needing liver transplantation in a small minority. Physical findings are usually minimal, apart from jaundice and tender hepatomegaly.

Common causes of acute hepatitis are hepatitis A, B or E viruses, CMV, and EBV infections. Nonviral infection such as with Leptospira and Q fever can also present with acute hepatitis. Other causes of acute hepatitis are drug-induced hepatotoxicity from paracetamol overdose or idiosyncratic adverse hepatic reactions. Although autoimmune hepatitis is a chronic relapsing remitting condition, it presents as acute hepatitis in a third of cases. Ischaemic hepatitis following circulatory shock is a common scenario in hospitalized patients.


In cirrhosis, as a response to liver injury, activated stellate cells proliferate and secrete fibrillar collagen, resulting in excess fibrotic matrix. When the injury is recurrent or chronic, liver fibrosis progresses to cirrhosis (see Box 9.10), defined anatomically by the presence of nodules of hepatocytes separated by fibrous septae. These fibrous septae disrupt the architecture of the liver and impair liver function.

Portal hypertension occurs as a consequence of structural changes within the liver in cirrhosis, leading to the development of portal–systemic collaterals including gastro-oesophageal varices. Portal (sinusoidal) hypertension is also a prerequisite for the development of ascites, and development of ascites is an important landmark in the natural history of cirrhosis.


Alcohol excess is a common cause of end-stage liver disease, which is part of a huge spectrum of illness caused by alcohol such as alcoholic fatty liver disease, alcoholic hepatitis and cirrhosis. Non-alcoholic fatty liver disease is currently the commonest chronic liver disease in affluent societies where there is a rising incidence of risk factors such as obesity and diabetes. Chronic hepatitis C virus infection acquired by intravenous drug use or through past exposure to blood products, and hepatitis B virus infection, which spreads through vertical transmission mainly (sexually transmitted or acquired by intravenous drug use in some), are common causes of cirrhosis and hepatocellular carcinoma worldwide. There are three conditions where autoimmunity causes liver injury: autoimmune hepatitis, primary biliary cirrhosis and primary sclerosing cholangitis (PSC). These are diagnosed on the basis of serology and histology, and cholangiography in the case of PSC. Hereditary haemochromatosis is the most common genetic disorder in the Caucasian population with a prevalence of up to 1 per 200 in those of northern European origin. Wilson’s disease is an autosomal recessive inherited disorder of copper metabolism resulting in liver and/or neuropsychiatric disease. It occurs in all ethnic groups with a worldwide prevalence of 3 per 100 000 population. α-1 antitrypsin deficiency is the most common genetic cause of liver disease in children. It can present with neonatal hepatitis syndrome or with decompensated liver disease and portal hypertension in older children. In adults, it can present with raised liver enzymes, chronic hepatitis, cirrhosis, portal hypertension or hepatocellular carcinoma of unknown origin.




Acute pancreatitis

This is an acute inflammatory process, with variable involvement of other regional tissues or remote organ systems. It is characterized clinically by the sudden onset of symptoms. About 80 per cent of acute pancreatitis is related to stones in the common bile duct or alcohol excess. About 10–15 per cent of patients have no identifiable causes.

Chronic pancreatitis

Chronic pancreatitis is a progressive inflammatory disease of the exocrine pancreas characterized by severe and recurrent episodes of abdominal pain associated with pancreatic inflammation, progressive loss of acinar tissue and fibrosis. Alcohol accounts for 70–80 per cent of cases of chronic pancreatitis. Pain is the predominant symptom in most patients. Progressive fibrosis leads to loss of both endocrine and exocrine functions of the pancreas. Diabetes develops in a third of patients and exocrine insufficiency could manifest with diarrhoea, steatorrhoea and weight loss. Other complications include portal or splenic vein thrombosis and development of pancreatic cancer.

Pancreatic cancer

Pancreatic cancer accounts for 6700 deaths per year in the UK. Three main symptoms of pancreatic cancer are pain, weight loss and jaundice. The diagnosis of pancreatic cancer should be considered in older patients with type 2 diabetes of recent onset without a family history and in those with an unexplained attack of acute pancreatitis.




Clinical history

  • Dysphagia:
    • In patients with dysphagia the level of perceived obstruction does not correlate well with the site of pathology.
    • Globus is a diagnosis of exclusion and organic abnormalities must be carefully excluded in these patients.
  • Dyspepsia:
    • Indigestion is a common symptom, but can mean different things to different patients. It is important to clarify what patients mean by any particular symptom.
    • Heartburn and acid regurgitation are commoner in patients with GORD.
    • No symptom in particular is specific for or reliably excludes the presence of ulcer diathesis.
  • Gastrointestinal bleeding:
    • Prompt assessment of severity of gastrointestinal bleeding using validated clinical tools is an essential part of clinical examination.
    • Absence of blood in nasogastric aspirates does not exclude the presence of upper gastrointestinal bleed.
    • Patients with large-volume, rapid bleeding from the upper gastrointestinal tract can present with haematochezia.
  • Abdominal pain:
    • Classic descriptions of pain are often the exception rather than the rule in routine clinical practice.
    • Signs and symptoms in patients with acute abdominal pain can change in severity and presentation with time and serial examinations are helpful.
    • Severity of pain can be underestimated in immunocompromised individuals, patients with diabetes and in extremes of age (very young and very old).
    • While evaluating patients with abdominal pain, asking about rapidity of onset and duration of symptoms is of prime importance.
  • Diarrhoea:
    • The term diarrhoea means different things to different patients. So seek out specific details of the symptoms.
    • Duration of symptoms is important as acute diarrhoeal illnesses are often selflimiting and have very different causes from chronic diarrhoea.
    • Use of over-the-counter laxatives is often an overlooked cause for diarrhoea.
  • Constipation:
    • New-onset constipation is an alarm symptom especially in elderly people.
    • Patients consider infrequent bowel movements as well as difficulty passing stool as constipation and it is important to make the distinction between these two.
    • History alone is insufficient to distinguish between organic and functional causes of constipation.
  • Jaundice:
    • Deep yellow urine suggests a possibility of concentrated urine in dehydration rather than bilirubinuria.
    • Bilirubin gives urine brown, tea or cola colour, which the patients commonly describe.
    • History of dark brown urine (due to bilirubinuria) does not differentiate hepatocellular disease from cholestatic jaundice.
    • Cholestasis can occur without anatomical biliary obstruction.
    • History of risk factors for chronic liver disease is important in identifying acute decompensation of chronic liver disease.

Physical examination

  • Auscultation is not a useful adjunct in the evaluation of abdominal symptoms.
  • In postoperative patients, auscultation for bowel sounds is not useful in predicting the return of colonic motility and ability to tolerate oral feeds.
  • Abdominal bruits are heard frequently in normal individuals and have a poor sensitivity with regard to identification of either aortic aneurysms or renal artery stenosis.
  • The combination of right lower quadrant pain, migration of initial peri-umbilical pain to the right lower quadrant and rigidity is useful for identifying acute appendicitis.
  • In patients with right upper quadrant pain and suspected cholecystitis, Murphy’s sign is only modestly sensitive as it is difficult to localize the gallbladder. Sonographic Murphy’s sign has a better diagnostic yield.
  • Eliciting rebound tenderness depends on causing pain to the patient but the findings are unlikely to change the diagnosis or management of the patient, hence its use should be discouraged.
  • Interobserver variation in liver span estimation is too high for it to be of any practical value.
  • Palpability of the liver depends on its consistency – 50 per cent of normal livers with soft consistency extending beyond the costal margin are missed on palpation, whereas the majority of diseased enlarged livers which are firm or hard in consistency are detected by palpation.
  • When the spleen is not palpable, percussion does not add to the clinical decision-making process.
  • About a third of patients with aortic aneurysms are detected during routine physical examination (but, in high-risk individuals an ultrasound should be performed regardless of physical signs).
  • Examination techniques that distinguish direct from indirect hernia have poor interobserver agreement and are unreliable for clinical decision making.


Creative Commons License


Creative Commons Attribution 4.0 International License

This part contains content from OpenStax College, Anatomy and Physiology. OpenStax CNX. Download for free at

SA Bos, M.D.

Lead Author